Scientists discover first promising gene therapy for incurable brain disease

Scientists may have discovered the first treatment for Huntington’s disease, a brain disorder for which there was until now no effective treatment.

Researchers from University College London (UCL) have announced positive results from a global clinical trial of a new gene therapy, AMT-130.

Developed by Dutch biotechnology company uniQure, the therapy is the first to be tested in people with Huntington’s disease, according to researchers.

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Huntington’s disease is a rare inherited neurodegenerative disorder that progressively damages nerve cells (neurons) in the brain, as defined by the National Institutes of Neurological Disorders and Stroke.

The disease, which usually appears between the ages of 30 and 50, is caused by a mutation in the HTT gene, which triggers cells to create a protein called huntingtin that can cause brain damage.

Scientists may have discovered the first treatment for Huntington’s disease, a brain disorder for which until now there was no effective treatment. (iStock)

Patients may experience a combination of motor, cognitive, and psychiatric symptoms. Jerky movements and involuntary stiffness are common, as well as difficulty walking, speaking and swallowing.

Cognitive symptoms may include memory loss and difficulty concentrating and making decisions. Emotional and behavioral changes may also appear, according to several medical sources.

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The disease usually leads to disability and then death within 20 years of the onset of neurological symptoms, according to UCL.

AMT-130 is a unique gene therapy injected into the brain, introducing new functional DNA via a neurosurgical procedure. The drug causes less production of the harmful huntingtin protein.

“My patients in the trial are stable over time, which is something I’m not used to seeing in Huntington’s disease.”

During the three-year clinical trial conducted at UCL, 29 Huntington’s patients received the experimental drug. Those who received a high dose of AMT-130 experienced 75% less disease progression than people who received only standard care, a study press release reported.

Disease progression was measured by the Unified Huntington’s Disease Rating Scale, which assesses motor, cognitive, and functional abilities.

Another component of the study was the measurement of neurofilament light (NfL) protein, which is found in the spinal fluid of Huntington’s patients as more neurons are damaged.

The disease, which usually appears between the ages of 30 and 50, is caused by a mutation in the HTT gene, which triggers cells to create a protein called huntingtin that can cause brain damage. (iStock)

Participants who took the experimental drug were found to have less protein at the end of the trial, although levels would typically have increased by 20 to 30 percent over that period.

The drug was generally found to be “well tolerated” with a “manageable safety profile,” the statement said.

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“This groundbreaking data represents the most compelling evidence in the field to date and highlights the disease-modifying effect in Huntington’s disease, where an urgent need remains,” Professor Sarah Tabrizi, senior scientific advisor to the UCL Huntington’s Disease Research Centre, said in the release.

“For patients, AMT-130 has the potential to preserve daily functions, keep them working longer and significantly slow disease progression.”

Patients who received a high dose of AMT-130 experienced 75% less disease progression than people who received only standard care for Huntington’s disease. (iStock)

Based on the results, Professor Ed Wild, principal investigator of the UCL Huntington’s Disease Center trial site at UCL and UCLH, said it was “likely” that AMT-130 would be the first treatment approved to slow Huntington’s disease, which he called “a real world-changing thing”.

“My patients in the trial are stable over time in a way that I’m not used to seeing in Huntington’s disease – and one of them is my only medically retired Huntington’s disease patient who has been able to return to work.”

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Dr. Earnest Lee Murray, a certified neurologist at Jackson-Madison County General Hospital in Jackson, Tennessee, noted the reasons for the long-standing difficulties in treating Huntington’s disease.

“The fact that we potentially have the opportunity to find a drug that changes the actual course of the disease instead of just treating the symptoms is certainly promising,” said one neurologist. (iStock)

“It’s been a challenge to identify specific targets for therapies,” Murray, who was not involved in the new study, told Fox News Digital. “Plus, there is always the challenge of crossing the blood-brain barrier.”

Most new therapies also use animal models in early clinical trials, in which it is difficult to replicate the complexity of Huntington’s disease, he added.

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Current treatments for the disease focus only on the core symptoms, Lee noted — “primarily the uncontrollable movements these patients experience, called chorea.”

“The fact that we potentially have the opportunity to find a drug that changes the actual course of the disease instead of just treating the symptoms is certainly promising.”

Potential Limitations and Next Steps

Although this study is “a step in the right direction,” Lee said, some limitations exist.

“We have to work hard to make it accessible to everyone who needs it.”

“This involves a very small cohort of patients and is in the very early stages of potential development,” he said. “We need to wait to see if larger blinded studies confirm the potential effectiveness of the treatment and also monitor potential side effects.”

Results of the trial will be presented next month at the HD Clinical Research Congress in Nashville, Tennessee.

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The company plans to submit an application to the FDA for accelerated approval of the drug early next year, uniQure confirmed to Fox News Digital.

“If that happens, we need to work hard to make it accessible to everyone who needs it, while also working just as diligently to add more effective treatments to the list,” Wild added.